Osler's disease (hereditary haemorrhagic telangiectasis)

Find out what Osler's disease is and how is it transmitted?

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What is Osler's disease?

Osler's disease, also known as hereditary haemorrhagic telangiectasis (HHT), is a rare hereditary condition in which the patient's capillaries dilate to produce red skin spots and mucous membranes.

The symptoms can usually be found on the fingertips, face, lips, mouth, inside the nose and in the digestive tract.

The condition can cause serious breathing difficulties, bleeding in the lungs and, potentially, blood clots on the brain.

The reason for the changes in the capillaries is unknown, but it is probably due to the genes controlling the way in which the veins grow.

How is Osler's transmitted?

Osler's occurs in both men and women. The disease is passed from parent to child as an autosomal dominant condition.

This means that a parent with Osler's disease can expect at least one out of two of their children to inherit the condition.

At the age of 25, some 78 per cent of Osler's sufferers will show signs of the disease. But at age 50 more than 97 per cent will show symptoms. Only in very rare cases does the disease skip a generation.

The severity of the symptoms can be very different, even within the same family.

What are the symptom's of Osler's disease?

Nose: the most common symptom, usually beginning in childhood, is a sudden nosebleed. The frequency and severity of nosebleeds increases with age. About 95 per cent of people with Osler's experience nosebleeds.

Skin: bulges on the capillaries in the skin, visible on the face as red spots. Often the first red spots appear a few years after the first nosebleeds. The skin bulges are quite fragile and bleed easily.

Stomach: some 30 per cent of sufferers over 50 years of age will experience bleeding from some part of their digestive system. This can cause anaemia.

Lungs: bulges on the lung vessels appear in 33 per cent of all cases. Shortness of breath, especially when exercising, is also a common feature of the disease. A quarter of all patient's with Osler's disease are likely to cough up blood.

Brain: brain aneurysms occur in 10 per cent of people with the disease. Some of these growths are harmless, but others can cause paralysis for short periods of time, epilepsy or brain damage due to bleeding.

What are the danger signs?

  • Black, tar-like stools.
  • Drowsiness, dizziness.
  • Breathing difficulties, blue lips, domed fingernails (drumstick fingers).
  • Coughing up blood.
  • Epilepsy.
  • Occasional paralysis.
  • A pale complexion.
  • Fatigue.

    How does the doctor diagnose Osler's disease?

    The doctor will conduct an external examination and ask questions about any possible family history of Osler's disease.

    The doctor may also look for changes in the lung's blood vessels, detectable by X-ray after an injection of a special fluid to make the vessels visible. Often this test is carried out using MRI scanning nowadays.

    What is the prognosis?

    It may not prove possible to treat the disease by treating the patient's genes. But future research is likely to improve the management of the symptoms.

    Doctors are trying to see if a single blood test will be enough to diagnose Osler's disease. But so far, this is only possible in families where Osler's has already been diagnosed.

    Within a couple of years a single test should be possible for all patients.

    How is Osler's disease treated?

    For nosebleeds, iron supplements and laser treatment of the red spots in the mucous membrane may be useful.

    In very severe cases, skin from the leg can be transplanted into the nose to stop frequent nosebleeds.

    A patient with nosebleeds should not let the inside of their nose become dry or pick the scabs. Patients complaining of tiredness should take iron supplements and ask their doctor to test for anaemia.

    It's important that women with Osler's are examined for lung capillary problems before becoming pregnant.

    Blood circulation is more intensive during pregnancy, which in turn creates a bigger risk of burst capillaries. Burst capillaries are potentially fatal for both the mother and child.

    There are more lung capillary problems with age, but the most critical time is during adolescence and pregnancy.

    For lung capillary problems, the abnormal blood vessels in the lungs can be destroyed by a procedure known as 'catheter embolisation' therapy, carried out under local anaesthetic.

    A catheter is inserted in the groin and fed through to the bulges in the blood vessels. The blood vessels are then closed by a silicone balloon filled with fluids.

    The blood will not be able to flow through the damaged vessels, but instead run through the healthy vessels. This causes blood oxygenation to rise to normal levels.

    Other people also read:

    Nosebleeds (epistaxis): what to do if you get a nosebleed.


    Epilepsy: find out what you should you do if someone has a seizure.

    Fatigue: there are a number of conditions that cause fatigue.

    Based on a text by Dr Anette Kjeldsen

    Last updated

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